Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000317578 [[46268042, 46269369], [46269607, 46270413], [46271299, 46272484]] [[46268758, 46269369], [46269607, 46270413], [46271299, 46272102]]
ENST00000560160 [[46268146, 46269369], [46271299, 46271885]] [[46269188, 46269369], [46271299, 46271885]]
ENST00000560168 [[46268650, 46270413], [46271299, 46271370], [46271972, 46272113]] [[46270404, 46270413], [46271299, 46271370], [46271972, 46272102]]
NM_175875 [[46268042, 46269369], [46269607, 46270413], [46271299, 46272497]] [[46268758, 46269369], [46269607, 46270413], [46271299, 46272102]]
Promoter
Chrom Start End Description
chr19 46271505 46271575 CAGE_peak_2_at_SIX5_5end
chr19 46272106 46272115 CAGE_peak_3_at_SIX5_5end
chr19 46272462 46272562 CAGE_peak_1_at_SIX5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I044844 44844361 44851667 2.66 [{'connected_gene': 'NECTIN2', 'score': 570.87}, {'connected_gene': 'GC19P044850', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 150.44}, {'connected_gene': 'ZNF45', 'score': 127.15}, {'connected_gene': 'ZNF225', 'score': 92.67}, {'connected_gene': 'CLASRP', 'score': 84.84}, {'connected_gene': 'ZNF224', 'score': 73.85}, {'connected_gene': 'ZNF234', 'score': 73.19}, {'connected_gene': 'ZNF284', 'score': 72.14}, {'connected_gene': 'FBXO46', 'score': 66.69}, {'connected_gene': 'LOC100505715', 'score': 65.68}, {'connected_gene': 'ENSG00000269148', 'score': 59.62}, {'connected_gene': 'ZNF285', 'score': 51.45}, {'connected_gene': 'ZNF227', 'score': 40.94}, {'connected_gene': 'ZNF230', 'score': 38.93}, {'connected_gene': 'ENSG00000267191', 'score': 38.61}, {'connected_gene': 'ZNF235', 'score': 33.02}, {'connected_gene': 'ZNF112', 'score': 32.08}, {'connected_gene': 'ZNF223', 'score': 30.34}, {'connected_gene': 'LOC100379224', 'score': 29.45}, {'connected_gene': 'ZNF226', 'score': 28.29}, {'connected_gene': 'ZNF221', 'score': 23.43}, {'connected_gene': 'LOC101928063', 'score': 22.49}, {'connected_gene': 'CEACAM19', 'score': 21.85}, {'connected_gene': 'ENSG00000267114', 'score': 21.48}, {'connected_gene': 'MRPS15P2', 'score': 21.33}, {'connected_gene': 'SNRPD2', 'score': 19.26}, {'connected_gene': 'RELB', 'score': 12.19}, {'connected_gene': 'ZNF233', 'score': 11.1}, {'connected_gene': 'BCAM', 'score': 10.61}, {'connected_gene': 'ZNF222', 'score': 10.54}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ENSG00000259605', 'score': 9.97}, {'connected_gene': 'SIX5', 'score': 9.75}, {'connected_gene': 'BCL3', 'score': 1.53}, {'connected_gene': 'PIR35850', 'score': 0.44}]
chr19 GH19I045667 45667358 45669779 2.07 [{'connected_gene': 'GIPR', 'score': 555.51}, {'connected_gene': 'SNRPD2', 'score': 34.91}, {'connected_gene': 'CCDC61', 'score': 29.35}, {'connected_gene': 'DM1-AS', 'score': 24.01}, {'connected_gene': 'ENSG00000259605', 'score': 24.0}, {'connected_gene': 'ENSG00000268810', 'score': 23.94}, {'connected_gene': 'CLASRP', 'score': 15.84}, {'connected_gene': 'FBXO46', 'score': 15.68}, {'connected_gene': 'PPP1R13L', 'score': 14.33}, {'connected_gene': 'ENSG00000269148', 'score': 13.43}, {'connected_gene': 'IRF2BP1', 'score': 12.98}, {'connected_gene': 'SYMPK', 'score': 12.07}, {'connected_gene': 'SIX5', 'score': 11.74}, {'connected_gene': 'BCAM', 'score': 10.96}, {'connected_gene': 'ENSG00000267114', 'score': 10.22}, {'connected_gene': 'RELB', 'score': 10.14}, {'connected_gene': 'ERCC1', 'score': 9.94}, {'connected_gene': 'GC19P045675', 'score': 0.44}, {'connected_gene': 'GC19P045665', 'score': 0.44}]
chr19 GH19I045313 45313082 45314419 0.66 [{'connected_gene': 'FBXO46', 'score': 13.65}, {'connected_gene': 'ZNF180', 'score': 13.24}, {'connected_gene': 'CCDC61', 'score': 12.15}, {'connected_gene': 'EXOC3L2', 'score': 11.49}, {'connected_gene': 'CD3EAP', 'score': 10.5}, {'connected_gene': 'PPP1R13L', 'score': 10.5}, {'connected_gene': 'SIX5', 'score': 9.77}, {'connected_gene': 'DMWD', 'score': 5.86}, {'connected_gene': 'CKM', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.44}]
chr19 GH19I045798 45798898 45799758 1.02 [{'connected_gene': 'CLASRP', 'score': 17.82}, {'connected_gene': 'DMWD', 'score': 17.61}, {'connected_gene': 'CCDC61', 'score': 15.89}, {'connected_gene': 'ENSG00000269148', 'score': 15.03}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'SIX5', 'score': 12.03}, {'connected_gene': 'SYMPK', 'score': 11.35}, {'connected_gene': 'FOXA3', 'score': 11.35}, {'connected_gene': 'FBXO46', 'score': 10.26}, {'connected_gene': 'PIR50651', 'score': 0.77}, {'connected_gene': 'GC19M045805', 'score': 0.77}, {'connected_gene': 'RSPH6A', 'score': 0.37}]
chr19 GH19I045763 45763752 45773931 2.52 [{'connected_gene': 'DM1-AS', 'score': 558.07}, {'connected_gene': 'SIX5', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 45.41}, {'connected_gene': 'SYMPK', 'score': 37.8}, {'connected_gene': 'FBXO46', 'score': 33.33}, {'connected_gene': 'ENSG00000268810', 'score': 32.89}, {'connected_gene': 'CLASRP', 'score': 30.2}, {'connected_gene': 'ENSG00000267114', 'score': 29.25}, {'connected_gene': 'ENSG00000269148', 'score': 23.4}, {'connected_gene': 'DMWD', 'score': 16.86}, {'connected_gene': 'PPP1R13L', 'score': 14.32}, {'connected_gene': 'DMPK', 'score': 13.17}, {'connected_gene': 'IRF2BP1', 'score': 11.66}, {'connected_gene': 'BHMG1', 'score': 11.22}, {'connected_gene': 'FOXA3', 'score': 11.06}, {'connected_gene': 'BCAM', 'score': 10.96}, {'connected_gene': 'QPCTL', 'score': 10.57}, {'connected_gene': 'SNRPD2', 'score': 10.35}, {'connected_gene': 'PRKD2', 'score': 10.03}, {'connected_gene': 'FKRP', 'score': 5.55}, {'connected_gene': 'GC19M045770', 'score': 0.77}, {'connected_gene': 'ENSG00000259605', 'score': 0.77}]
chr19 GH19I045715 45715902 45719276 1.61 [{'connected_gene': 'ENSG00000279407', 'score': 550.77}, {'connected_gene': 'ENSG00000268810', 'score': 23.79}, {'connected_gene': 'SNRPD2', 'score': 22.96}, {'connected_gene': 'CCDC61', 'score': 20.18}, {'connected_gene': 'QPCTL', 'score': 12.19}, {'connected_gene': 'SIX5', 'score': 11.8}, {'connected_gene': 'DMWD', 'score': 11.22}, {'connected_gene': 'ENSG00000269148', 'score': 11.05}, {'connected_gene': 'CLASRP', 'score': 11.0}, {'connected_gene': 'FBXO46', 'score': 10.84}, {'connected_gene': 'RELB', 'score': 10.14}, {'connected_gene': 'SYMPK', 'score': 9.97}, {'connected_gene': 'FOXA3', 'score': 9.97}, {'connected_gene': 'BHMG1', 'score': 0.44}]
chr19 GH19I045873 45873052 45874991 1.2 [{'connected_gene': 'GC19M045838', 'score': 550.77}, {'connected_gene': 'FBXO46', 'score': 13.71}, {'connected_gene': 'CCDC61', 'score': 12.25}, {'connected_gene': 'SLC1A5', 'score': 11.81}, {'connected_gene': 'SIX5', 'score': 9.87}, {'connected_gene': 'FOXA3', 'score': 0.39}]